Variant report

Variant	rs1004441
Chromosome Location	chr2:12085795-12085796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12085580..12088187-chr2:12090177..12093048,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10210362	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13012835	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1985419	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2016806	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2033874	0.87[ASN][1000 genomes]
rs2033875	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2033876	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119145	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2248650	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249223	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255293	0.83[ASN][1000 genomes]
rs2581066	0.83[ASN][1000 genomes]
rs2581069	0.93[ASN][1000 genomes]
rs2581070	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2581075	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2581077	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2581078	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2581080	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs972874	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12079400-12090600	Weak transcription	Esophagus	oesophagus
2	chr2:12082600-12090400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:12084400-12085800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:12084400-12085800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:12084400-12086000	Enhancers	K562	blood
6	chr2:12084400-12086200	Flanking Active TSS	GM12878-XiMat	blood
7	chr2:12084800-12086000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:12084800-12086200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:12085000-12086000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:12085400-12086200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr2:12085600-12085800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr2:12085600-12085800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr2:12085600-12085800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr2:12085600-12085800	Enhancers	Right Atrium	heart
15	chr2:12085600-12086000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr2:12085600-12086000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:12085600-12086000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:12085600-12086000	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:12085600-12086000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr2:12085600-12086000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr2:12085600-12086000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr2:12085600-12086200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:12085600-12086200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:12085600-12086200	Enhancers	Dnd41	blood

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